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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:immunodeficiency 40
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Accession:DOID:0111951 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1. (DO)
Synonyms:exact_synonym: DOCK2 deficiency;   IMD40
 primary_id: OMIM:616433
 xref: GARD:12653;   NCI:C176799;   ORDO:447737
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H5orf58 chromosome 10 open reading frame, human C5orf58 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,690,958...18,697,224
Ensembl chr10:18,688,847...18,697,220
JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: DOCK2 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 More... NCBI chr10:18,827,237...19,244,823
Ensembl chr10:18,827,239...19,244,808
JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
JBrowse link
G Gabrp gamma-aminobutyric acid type A receptor subunit pi ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,143,031...18,169,595
Ensembl chr10:18,143,038...18,169,516
JBrowse link
G Insyn2b inhibitory synaptic factor family member 2B ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr10:18,916,721...19,023,859
Ensembl chr10:19,003,131...19,022,139
JBrowse link
G Kcnip1 potassium voltage-gated channel interacting protein 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,219,519...18,588,833
Ensembl chr10:18,219,519...18,589,045
JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
JBrowse link
G Lcp2 lymphocyte cytosolic protein 2 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        combined immunodeficiency 771
          combined T cell and B cell immunodeficiency 240
            immunodeficiency 40 8
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                immunodeficiency 40 8
paths to the root